Q101E (p.Gln101Glu) variant of IL2RA (P01589)
Q101E (p.Gln101Glu) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
Q101E (p.Gln101Glu) variant details
- p.Gln101Glu
- rs886041037
- ClinGen CA375928316
- ClinVar RCV001959415
- TOPMed rs886041037
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.96
- PolyPhen-2 0.13
- SIFT 0.05
- EVE 0.31
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available